Skeletal dysplasia

Gene: RIPPLY2

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 6:08 p.m. | Last Modified: 24 Feb 2025, 6:08 p.m.

Panel Version: 7.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

RIPPLY2 variants have been associated with Spondylocostal dysostosis 6 (OMIM:616566). In total, three RIPPLY2 variants have been identified ten affected individuals from seven unrelated families (PMID: 26238661;25343988;32212228;33410135). Segregation of the RIPPLY2 variants was seen in all cases, with the unaffected parents being heterozygous for the variants that were either homozygous, or compound heterozygous in the affected child. Variant c.240-4T>G (NM_001009994.2) has a allele frequency of 0.001105 (gnomAD 4.1), and a homozygous frequency of 0.0000020229.

Created: 1 Oct 2024, 10:55 a.m. | Last Modified: 1 Oct 2024, 10:57 a.m.

Panel Version: 6.15

I don't know

characterized clinically by: a short trunk in proportion to height due to segmentation defects of the vertebrae - single family (2 cases) reported, plus a second unrelated case with features of Klippel-Feil syndrome; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 6 - 616566

Publications

• 26238661
• 25343988

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RIPPLY2; Initial rating suggestion: amber

Created: 6 Mar 2019, 11:37 a.m.